This chapter was intended to provide the reader with some of the basic concepts of molecular genetics. One should keep in mind not only the applications of this technology, which will be discussed in the following chapters, but also the "nonscience" consequences that arise as a result of genetic disease testing. Nucleic acid-based laboratory testing can be performed as a diagnostic procedure, for carrier testing, as a prenatal diagnostic test, or for presymptomatic and susceptibility testing (Table 3) (16). As more of these diagnostic tests become available for genetic diseases, the laboratorian must also be aware of patterns of inheritance, risk assessment, family counseling issues, and the ethical issues associated with genetic testing. It is imperative, therefore, that the molecular genetics diagnostic laboratory function in close association with certified medical geneticists and genetic counselors. Such associations will ensure the proper dissemination and interpretation of test results, as well as maximize the benefits of genetic testing to family members.
As the identification of disease-associated mutations and genetic sequences continues to increase, so does the potential for clinical laboratorians to apply the discussed technologies to the diagnosis and monitoring of the resulting pathology in a traditional clinical laboratory fashion (5-8). Health care professionals must become familiar with the advantages, disadvantages, and limitations of molecular genetic technologies when applied to the diagnosis of disease. The following chapters discuss the current applications of molecular techniques to the diagnosis of human diseases. It would be impossible, even at this early stage of molecular diagnostics, to cover all of the possibilities for molecular diagnostic testing in an up-to-date fashion. As clinical laboratorians, we must not only be aware of these rapid advances but also embrace these new technologies as the "next generation" of assays we will be performing. Rapid advances in automation promise to make in vitro amplification, probe assays, and sequencing as routine in the clinical laboratory as the once not so popular immunoassay.
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